Pompe disease is a debilitating condition that results in abnormally high tissue glycogen concentrations and is the subject of significant therapeutic focus by the pharma industry, including promising gene therapies. Non-invasive biomarkers that are specific and sensitive are sought after to address major gaps in early phase clinical trials. We characterized 13C MRS measurements of muscle glycogen concentration as potential biomarkers in Pompe disease, including test/re-test measurements and correlation with tissue biochemical measurements. Strong specificity and reasonable reproducibility was found, suggesting potential for 13C MRS to be used in Pompe disease patients.
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